Canonical Allele Identifier: CA400784164

Gene: NACA2

Linked Data

• gnomAD v4: 17-61590818-T-C
• COSMIC: COSM1384989
• MyVariant Identifiers: chr17:g.59668179T>C (hg19) ; chr17:g.61590818T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.61590818T>C , CM000679.2:g.61590818T>C	GRCh38
NC_000017.10:g.59668179T>C , CM000679.1:g.59668179T>C	GRCh37
NC_000017.9:g.57022961T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000521764.3:c.363A>G MANE Select	ENSP00000427802.1:p.Ile121Met
ENST00000521764.2:c.363A>G	ENSP00000427802.1:p.Ile121Met
NM_199290.3:c.363A>G	NP_954984.1:p.Ile121Met
NM_199290.4:c.363A>G MANE Select	NP_954984.1:p.Ile121Met